Canonical Allele Identifier: CA1081954585
Gene: SPOCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1753476801
gnomAD v3: 5-137111671-A-G
gnomAD v4: 5-137111671-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137111671A>G , CM000667.2:g.137111671A>G GRCh38
NC_000005.9:g.136447360A>G , CM000667.1:g.136447360A>G GRCh37
NC_000005.8:g.136475259A>G NCBI36
NG_034127.1:g.392659T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394945.6:c.474+764T>C MANE Select ENSP00000378401.1:n.474+764T>C
ENST00000282223.11:c.288+764T>C ENSP00000282223.9:n.288+764T>C
ENST00000394945.5:c.474+764T>C ENSP00000378401.1:n.474+764T>C
ENST00000510689.5:c.39+764T>C ENSP00000421677.1:n.39+764T>C
ENST00000635347.1:n.447+764T>C
NM_004598.3:c.474+764T>C NP_004589.1:n.474+764T>C
NM_004598.4:c.474+764T>C MANE Select NP_004589.1:n.474+764T>C
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